Incidental Mutation 'R4627:Ttf1'
ID348831
Institutional Source Beutler Lab
Gene Symbol Ttf1
Ensembl Gene ENSMUSG00000026803
Gene Nametranscription termination factor, RNA polymerase I
Synonyms
MMRRC Submission 041892-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.920) question?
Stock #R4627 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location29060262-29087656 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 29065160 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Asparagine at position 179 (H179N)
Ref Sequence ENSEMBL: ENSMUSP00000097809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100237]
Predicted Effect possibly damaging
Transcript: ENSMUST00000100237
AA Change: H179N

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000097809
Gene: ENSMUSG00000026803
AA Change: H179N

DomainStartEndE-ValueType
internal_repeat_1 13 67 1.04e-14 PROSPERO
internal_repeat_1 85 142 1.04e-14 PROSPERO
low complexity region 143 153 N/A INTRINSIC
low complexity region 171 183 N/A INTRINSIC
low complexity region 274 293 N/A INTRINSIC
low complexity region 350 387 N/A INTRINSIC
low complexity region 434 447 N/A INTRINSIC
low complexity region 451 461 N/A INTRINSIC
Blast:SANT 508 585 8e-28 BLAST
SANT 589 636 2.37e-6 SMART
SANT 638 720 1.8e-6 SMART
low complexity region 805 819 N/A INTRINSIC
low complexity region 842 857 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142786
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik T C 13: 63,068,092 S393P probably benign Het
Adam6a A T 12: 113,544,949 D314V probably benign Het
Adamts18 C T 8: 113,773,168 W371* probably null Het
Adamtsl2 T A 2: 27,093,585 L331Q probably damaging Het
Akr1c13 G T 13: 4,197,870 V214F probably damaging Het
Aldoart1 T C 4: 72,852,443 T43A probably benign Het
Alkbh2 C T 5: 114,124,226 E148K probably damaging Het
Ano7 T C 1: 93,375,185 I15T probably benign Het
Aox3 A T 1: 58,125,035 T155S probably damaging Het
Ap2a1 C T 7: 44,904,419 V535M probably damaging Het
Apbb2 C T 5: 66,400,076 probably null Het
Astn1 C A 1: 158,502,251 H225Q possibly damaging Het
Atm A G 9: 53,456,506 I2439T possibly damaging Het
Atp1b2 T A 11: 69,601,334 I263F probably damaging Het
Ccdc184 A T 15: 98,168,757 N148Y probably benign Het
Cdca7 TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA 2: 72,481,861 probably benign Het
Cep192 C G 18: 67,812,369 P180R probably benign Het
Cfap46 T C 7: 139,657,281 Y571C probably damaging Het
Cfap46 A T 7: 139,680,927 L85Q probably damaging Het
Chchd6 G A 6: 89,384,660 L226F probably damaging Het
Cnot6l A G 5: 96,077,211 V541A probably benign Het
Cobl T C 11: 12,251,093 E1214G probably damaging Het
Cpsf2 G A 12: 101,989,895 R319Q probably benign Het
Csdc2 T C 15: 81,949,123 V107A probably benign Het
Csmd1 A G 8: 16,697,917 W273R probably benign Het
Diexf T C 1: 193,107,695 T719A probably benign Het
Dnah2 T A 11: 69,465,376 N2156I probably damaging Het
Dsp A G 13: 38,168,641 Y165C probably benign Het
Exoc1 T C 5: 76,542,228 V205A probably benign Het
Fam98c T C 7: 29,155,268 T49A possibly damaging Het
Fbln2 G T 6: 91,259,767 V755L probably damaging Het
Fhad1 A T 4: 141,896,468 V1371D possibly damaging Het
Folh1 A T 7: 86,773,252 M59K probably benign Het
Foxf2 A T 13: 31,626,888 H270L probably benign Het
Gm14401 G A 2: 177,086,316 R65H probably benign Het
Gpn1 C A 5: 31,498,393 Y592* probably null Het
Hmcn1 T G 1: 150,595,894 D4903A probably benign Het
Hnf1a T C 5: 114,955,871 R220G probably damaging Het
Hoxd10 G A 2: 74,692,292 A105T probably benign Het
Kcnd3 C T 3: 105,658,766 A421V probably damaging Het
Kidins220 C T 12: 25,057,042 T1498I possibly damaging Het
Klhl2 G T 8: 64,758,191 Y274* probably null Het
Lmbrd1 A G 1: 24,705,999 Y140C probably damaging Het
Mapk8ip3 G A 17: 24,903,293 T706I probably benign Het
Mast4 A C 13: 103,334,021 S58A possibly damaging Het
Mcm6 T C 1: 128,351,548 D167G probably benign Het
Mmachc A T 4: 116,703,471 S276T probably damaging Het
Nfat5 A T 8: 107,369,276 Q1289L probably damaging Het
Nlrc4 G T 17: 74,446,628 F253L probably damaging Het
Nr1i3 C A 1: 171,216,445 A112E probably benign Het
Olfr1367 T C 13: 21,347,464 F179L probably damaging Het
Olfr45 T A 7: 140,691,378 S158T probably benign Het
Olfr455 T A 6: 42,538,441 T194S possibly damaging Het
Olfr853 G T 9: 19,537,673 Q86K possibly damaging Het
Orc5 G T 5: 22,548,005 F10L probably benign Het
Pde10a A C 17: 8,981,652 D779A probably damaging Het
Pde4b T C 4: 102,601,605 L486S probably damaging Het
Pex2 A T 3: 5,561,281 I156N probably damaging Het
Phtf2 C T 5: 20,773,740 R63Q probably damaging Het
Prag1 A G 8: 36,103,292 Y343C probably damaging Het
Prdm16 A T 4: 154,367,240 Y170N probably damaging Het
Prpf6 A C 2: 181,601,474 K5T probably damaging Het
Ptpn1 A G 2: 167,967,781 K103R probably benign Het
Ralgapa2 A G 2: 146,361,453 S1159P possibly damaging Het
Rapgef3 G T 15: 97,758,929 D318E probably damaging Het
Ripk4 A T 16: 97,744,026 S474T probably damaging Het
Rmi1 A G 13: 58,409,136 R400G probably benign Het
Sec16a A G 2: 26,429,393 V1491A probably damaging Het
Sec16a C T 2: 26,431,068 probably null Het
Setd7 G T 3: 51,542,665 N113K probably damaging Het
Shank2 C T 7: 144,411,424 T1502M probably damaging Het
Skor1 A T 9: 63,145,476 C376S probably damaging Het
Slc12a3 A T 8: 94,329,384 L49F probably benign Het
Slc35d3 C T 10: 19,849,331 V260M probably damaging Het
Slc46a1 T A 11: 78,466,889 V256E probably benign Het
Slc6a1 T C 6: 114,308,106 S127P probably benign Het
Syngr4 A G 7: 45,887,028 L190P probably damaging Het
Tagap G A 17: 7,926,941 probably null Het
Tamm41 A T 6: 115,035,002 N89K probably benign Het
Tbc1d31 T A 15: 57,967,912 M922K probably benign Het
Tbk1 T C 10: 121,568,080 N254S possibly damaging Het
Tfec A G 6: 16,840,479 S140P probably damaging Het
Tnrc18 T C 5: 142,740,128 E1802G unknown Het
Tom1l2 C T 11: 60,242,707 probably null Het
Tonsl T G 15: 76,637,224 K323Q probably damaging Het
Tsnaxip1 A T 8: 105,841,407 E268D probably damaging Het
Ttn T C 2: 76,726,173 S30163G probably damaging Het
Ube2c A G 2: 164,772,173 N143S possibly damaging Het
Ugt1a10 G A 1: 88,218,390 R519Q probably damaging Het
Vmn2r9 T C 5: 108,847,597 Y395C probably damaging Het
Vwa8 G A 14: 79,103,697 probably null Het
Zfp9 A G 6: 118,464,976 Y242H probably damaging Het
Other mutations in Ttf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Ttf1 APN 2 29073883 splice site probably benign
IGL00916:Ttf1 APN 2 29070042 missense probably benign 0.05
IGL02148:Ttf1 APN 2 29079426 missense probably benign 0.17
IGL02631:Ttf1 APN 2 29069900 missense probably damaging 0.98
IGL02658:Ttf1 APN 2 29074011 missense probably damaging 1.00
IGL03057:Ttf1 APN 2 29071345 missense probably damaging 0.98
R0026:Ttf1 UTSW 2 29071349 missense possibly damaging 0.95
R0047:Ttf1 UTSW 2 29084655 missense probably damaging 1.00
R0047:Ttf1 UTSW 2 29084655 missense probably damaging 1.00
R0427:Ttf1 UTSW 2 29065042 missense probably benign 0.00
R0466:Ttf1 UTSW 2 29065407 missense possibly damaging 0.79
R0834:Ttf1 UTSW 2 29073950 nonsense probably null
R1548:Ttf1 UTSW 2 29065138 missense probably damaging 0.96
R1672:Ttf1 UTSW 2 29067152 missense probably damaging 0.98
R1696:Ttf1 UTSW 2 29070002 missense probably damaging 1.00
R1819:Ttf1 UTSW 2 29074784 missense possibly damaging 0.60
R2000:Ttf1 UTSW 2 29065185 missense possibly damaging 0.79
R2126:Ttf1 UTSW 2 29071345 missense probably damaging 0.98
R2426:Ttf1 UTSW 2 29067185 missense probably damaging 0.98
R2967:Ttf1 UTSW 2 29065383 missense possibly damaging 0.56
R3499:Ttf1 UTSW 2 29065487 missense possibly damaging 0.92
R3963:Ttf1 UTSW 2 29064804 missense possibly damaging 0.68
R4342:Ttf1 UTSW 2 29065476 missense probably benign 0.01
R4676:Ttf1 UTSW 2 29074594 missense probably damaging 0.96
R4907:Ttf1 UTSW 2 29064656 missense possibly damaging 0.72
R4909:Ttf1 UTSW 2 29064656 missense possibly damaging 0.72
R4926:Ttf1 UTSW 2 29064656 missense possibly damaging 0.72
R4927:Ttf1 UTSW 2 29064656 missense possibly damaging 0.72
R5746:Ttf1 UTSW 2 29065742 missense probably damaging 0.96
R5948:Ttf1 UTSW 2 29073920 missense possibly damaging 0.50
R6911:Ttf1 UTSW 2 29064851 missense probably benign 0.41
R7909:Ttf1 UTSW 2 29065459 missense probably benign 0.00
R7990:Ttf1 UTSW 2 29065459 missense probably benign 0.00
X0066:Ttf1 UTSW 2 29074775 missense probably benign 0.05
Z1176:Ttf1 UTSW 2 29065812 missense probably damaging 1.00
Z1176:Ttf1 UTSW 2 29071337 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTGGAGAGTGAGCAGCCTC -3'
(R):5'- ATGTTCCTGTGGCTTAGCAG -3'

Sequencing Primer
(F):5'- AGAGTGAGCAGCCTCCAGTG -3'
(R):5'- CTAGAAGTCTCTAGCAGGT -3'
Posted On2015-10-08